Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	60528
Gene name	ElaC ribonuclease Z 2
Gene symbol	ELAC2
Synonyms (NCBI Gene)	COXPD17ELC2HPC2
Chromosome	17
Chromosome location	17p12
Summary	The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3` trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) an

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4792311	G>A,C	Pathogenic, benign	Coding sequence variant, missense variant, intron variant
rs5030739	C>T	Pathogenic, benign	Coding sequence variant, missense variant
rs119484086	C>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs119484087	T>A,C	Pathogenic, benign	Coding sequence variant, missense variant
rs149733287	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, splice acceptor variant
rs150347734	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371543722	G>C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387906327	->C	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs397515463	G>A	Pathogenic	Coding sequence variant, missense variant
rs397515464	T>A	Pathogenic	Stop gained, coding sequence variant
rs397515465	A>G	Pathogenic	Coding sequence variant, missense variant
rs397515466	G>A	Pathogenic	Coding sequence variant, missense variant
rs761385155	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs763770476	C>A	Pathogenic	Coding sequence variant, stop gained
rs1060502161	CT>A	Pathogenic, uncertain-significance	Splice acceptor variant
rs1064796732	GAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1308121771	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555575927	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555576642	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567773277	T>-	Pathogenic	Frameshift variant, coding sequence variant

113

Show/Hide all (113)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031823	hsa-miR-16-5p	Proteomics	18668040
MIRT048960	hsa-miR-92a-3p	CLASH	23622248
MIRT048834	hsa-miR-93-5p	CLASH	23622248
MIRT047119	hsa-miR-183-5p	CLASH	23622248
MIRT042299	hsa-miR-484	CLASH	23622248
MIRT039981	hsa-miR-615-3p	CLASH	23622248
MIRT036843	hsa-miR-877-3p	CLASH	23622248
MIRT959661	hsa-miR-1264	CLIP-seq
MIRT959662	hsa-miR-3684	CLIP-seq
MIRT959663	hsa-miR-3917	CLIP-seq
MIRT959661	hsa-miR-1264	CLIP-seq
MIRT959664	hsa-miR-1301	CLIP-seq
MIRT959665	hsa-miR-137	CLIP-seq
MIRT959666	hsa-miR-25	CLIP-seq
MIRT959667	hsa-miR-32	CLIP-seq
MIRT959668	hsa-miR-363	CLIP-seq
MIRT959669	hsa-miR-367	CLIP-seq
MIRT959670	hsa-miR-4660	CLIP-seq
MIRT959671	hsa-miR-5047	CLIP-seq
MIRT959672	hsa-miR-92a	CLIP-seq
MIRT959673	hsa-miR-92b	CLIP-seq
MIRT959674	hsa-miR-3123	CLIP-seq
MIRT959675	hsa-miR-3925-5p	CLIP-seq
MIRT959676	hsa-miR-3976	CLIP-seq
MIRT1984271	hsa-miR-326	CLIP-seq
MIRT1984272	hsa-miR-330-5p	CLIP-seq
MIRT1984273	hsa-miR-3650	CLIP-seq
MIRT1984274	hsa-miR-3664-5p	CLIP-seq
MIRT1984275	hsa-miR-4299	CLIP-seq
MIRT1984276	hsa-miR-4456	CLIP-seq
MIRT1984277	hsa-miR-4714-5p	CLIP-seq
MIRT1984278	hsa-miR-548q	CLIP-seq
MIRT1984279	hsa-miR-593	CLIP-seq
MIRT2219377	hsa-miR-1237	CLIP-seq
MIRT2219378	hsa-miR-125a-5p	CLIP-seq
MIRT2219379	hsa-miR-125b	CLIP-seq
MIRT959661	hsa-miR-1264	CLIP-seq
MIRT959664	hsa-miR-1301	CLIP-seq
MIRT959665	hsa-miR-137	CLIP-seq
MIRT2219380	hsa-miR-1912	CLIP-seq
MIRT2219381	hsa-miR-22	CLIP-seq
MIRT959666	hsa-miR-25	CLIP-seq
MIRT2219382	hsa-miR-3064-3p	CLIP-seq
MIRT2219383	hsa-miR-3120-3p	CLIP-seq
MIRT2219384	hsa-miR-3130-5p	CLIP-seq
MIRT2219385	hsa-miR-3151	CLIP-seq
MIRT2219386	hsa-miR-3173-3p	CLIP-seq
MIRT959667	hsa-miR-32	CLIP-seq
MIRT2219387	hsa-miR-3614-3p	CLIP-seq
MIRT2219388	hsa-miR-3616-3p	CLIP-seq
MIRT959668	hsa-miR-363	CLIP-seq
MIRT959669	hsa-miR-367	CLIP-seq
MIRT959663	hsa-miR-3917	CLIP-seq
MIRT959676	hsa-miR-3976	CLIP-seq
MIRT2219389	hsa-miR-4303	CLIP-seq
MIRT2219390	hsa-miR-4319	CLIP-seq
MIRT2219391	hsa-miR-4436b-3p	CLIP-seq
MIRT2219392	hsa-miR-4453	CLIP-seq
MIRT2219393	hsa-miR-4482	CLIP-seq
MIRT2219394	hsa-miR-4514	CLIP-seq
MIRT2219395	hsa-miR-4538	CLIP-seq
MIRT2219396	hsa-miR-4642	CLIP-seq
MIRT2219397	hsa-miR-4645-5p	CLIP-seq
MIRT959670	hsa-miR-4660	CLIP-seq
MIRT2219398	hsa-miR-4673	CLIP-seq
MIRT2219399	hsa-miR-4692	CLIP-seq
MIRT2219400	hsa-miR-4779	CLIP-seq
MIRT2219401	hsa-miR-486-3p	CLIP-seq
MIRT959671	hsa-miR-5047	CLIP-seq
MIRT2219402	hsa-miR-634	CLIP-seq
MIRT959672	hsa-miR-92a	CLIP-seq
MIRT959673	hsa-miR-92b	CLIP-seq
MIRT2448778	hsa-miR-4778-3p	CLIP-seq
MIRT2522701	hsa-miR-1287	CLIP-seq
MIRT2522702	hsa-miR-18a	CLIP-seq
MIRT2522703	hsa-miR-18b	CLIP-seq
MIRT2522704	hsa-miR-1909	CLIP-seq
MIRT2522705	hsa-miR-3125	CLIP-seq
MIRT2522706	hsa-miR-3135b	CLIP-seq
MIRT1984271	hsa-miR-326	CLIP-seq
MIRT1984272	hsa-miR-330-5p	CLIP-seq
MIRT2522707	hsa-miR-34b	CLIP-seq
MIRT1984273	hsa-miR-3650	CLIP-seq
MIRT1984274	hsa-miR-3664-5p	CLIP-seq
MIRT959662	hsa-miR-3684	CLIP-seq
MIRT2522708	hsa-miR-3916	CLIP-seq
MIRT2522709	hsa-miR-3944-5p	CLIP-seq
MIRT1984275	hsa-miR-4299	CLIP-seq
MIRT1984276	hsa-miR-4456	CLIP-seq
MIRT2522710	hsa-miR-4632	CLIP-seq
MIRT1984277	hsa-miR-4714-5p	CLIP-seq
MIRT2522711	hsa-miR-4735-3p	CLIP-seq
MIRT1984278	hsa-miR-548q	CLIP-seq
MIRT1984279	hsa-miR-593	CLIP-seq
MIRT2522712	hsa-miR-877	CLIP-seq
MIRT2522701	hsa-miR-1287	CLIP-seq
MIRT2522704	hsa-miR-1909	CLIP-seq
MIRT2522705	hsa-miR-3125	CLIP-seq
MIRT2522706	hsa-miR-3135b	CLIP-seq
MIRT1984271	hsa-miR-326	CLIP-seq
MIRT1984272	hsa-miR-330-5p	CLIP-seq
MIRT2522707	hsa-miR-34b	CLIP-seq
MIRT1984273	hsa-miR-3650	CLIP-seq
MIRT1984274	hsa-miR-3664-5p	CLIP-seq
MIRT959662	hsa-miR-3684	CLIP-seq
MIRT2522708	hsa-miR-3916	CLIP-seq
MIRT2522709	hsa-miR-3944-5p	CLIP-seq
MIRT1984275	hsa-miR-4299	CLIP-seq
MIRT1984276	hsa-miR-4456	CLIP-seq
MIRT1984277	hsa-miR-4714-5p	CLIP-seq
MIRT1984278	hsa-miR-548q	CLIP-seq
MIRT1984279	hsa-miR-593	CLIP-seq
MIRT2522712	hsa-miR-877	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004521	Function	RNA endonuclease activity	TAS
GO:0004549	Function	TRNA-specific ribonuclease activity	EXP	12711671, 15317868, 16361254, 18809514, 21559454, 21593607
GO:0005634	Component	Nucleus	IDA	21593607
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	21593607
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0008033	Process	TRNA processing	IEA
GO:0016078	Process	TRNA decay	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0042645	Component	Mitochondrial nucleoid	IDA	24703694
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:0042780	Process	TRNA 3'-end processing	TAS
GO:0042781	Function	3'-tRNA processing endoribonuclease activity	IBA
GO:0042781	Function	3'-tRNA processing endoribonuclease activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0090646	Process	Mitochondrial tRNA processing	TAS
GO:1990180	Process	Mitochondrial tRNA 3'-end processing	IBA
GO:1990180	Process	Mitochondrial tRNA 3'-end processing	IMP	21593607

MIM	HGNC	e!Ensembl
605367	14198	ENSG00000006744

Q9BQ52

Protein name

Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.11) (ElaC homolog protein 2) (Heredity prostate cancer protein 2) (Ribonuclease Z 2) (RNase Z 2) (tRNA 3 endonuclease 2) (tRNase Z 2)

Protein function

Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA (PubMed:21593607). Associates with mitochondrial DNA complexes at the nucleo

PDB

8CBL , 8RR1 , 8RR3 , 8RR4 , 8Z0P , 8Z1F , 8Z1G , 9EY0 , 9EY1 , 9EY2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13691	Lactamase_B_4	61 → 120	tRNase Z endonuclease	Domain
PF12706	Lactamase_B_2	510 → 725	Beta-lactamase superfamily domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Highly expressed in heart, placenta, liver, skeletal muscle, kidney, pancreas, testis and ovary. Weakly expressed in brain, lung, spleen, thymus, prostate, small intestine, colon and leukocytes. {ECO:0000269|PubMed:11

Sequence

MWALCSLLRSAAGRTMSQGRTISQAPARRERPRKDPLRHLRTREKRGPSGCSGGPNTVYL
QVVAAGSRDSGAALYVFSEFNRYLFNCGEGVQRLMQEHKLKVARLDNIFLTRMHWSNVGG
LSGMILTLKETGLPKCVLSGPPQLEKYLEAIKIFSGPLKGIELAVRPHSAPEYEDETMTV
YQIPIHSEQRRGKHQPWQSPERPLSRLSPERSSDSESNENEPHLPHGVSQRRGVRDSSLV
VAFICKLHLKRGNFLVLKAKEMGLPVGTAAIAPIIAAVKDGKSITHEGREILAEELCTPP
DPGAAFVVVECPDESFIQPICENATFQRYQGKADAPVALVVHMAPASVLVDSRYQQWMER
FGPDTQHLVLNENCASVHNLRSHKIQTQLNLIHPDIFPLLTSFRCKKEGPTLSVPMVQGE
CLLKYQLRPRREWQRDAIITCNPEEFIVEALQLPNFQQSVQEYRRSAQDGPAPAEKRSQY
PEIIFLGTGSAIPMKIRNVSATLVNISPDTSLLLDCGEGTFGQLCRHYGDQVDRVLGTLA
AVFVSHLHADHHTGLPSILLQRERALASLGKPLHPLLVVAPNQLKAWLQQYHNQCQEVLH
HISMIPAKCLQEGAEISSPAVERLISSLLRTCDLEEFQTCLVRHCKHAFGCALVHTSGWK
VVYSGDTMPCEALVRMGKDATLLIHEATLEDGLEEEAVEKTHSTTSQAISVGMRMNAEFI
MLNHFSQRYAKVPLFSPNFSEKVGVAFDHMKVCFGDFPTMPKLIPPLKALFAGDIEEMEE
RREKRELRQVRAALLSRELAGGLEDGEPQQKRAHTEEPQAKKVRAQ

Sequence length

826

Interactions

View interactions

	Reactome
			tRNA processing in the nucleus tRNA processing in the mitochondrion rRNA processing in the mitochondrion

974

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation defect type 17	Likely pathogenic; Pathogenic	rs1014558424, rs781680309, rs138114191, rs550032922, rs2143692659, rs2143607002, rs779254943, rs946948334, rs2143562536, rs769454280, rs1033730754, rs748788377, rs2041085400, rs764570495, rs2508313935 View all (34 more)	RCV001330819 RCV001382836 RCV001386391 RCV001884755 RCV001991949 RCV002037051 RCV001976242 RCV002007356 RCV002007366 RCV001983769 RCV002005787 RCV001970016 RCV001953683 RCV003060857 RCV003079282 RCV002585387 RCV003088453 RCV002651193 RCV000693905 RCV002690312 RCV002861453 RCV002857907 RCV002891155 RCV002982768 RCV003035130 RCV003024471 RCV003324205 RCV003582611 RCV003581071 RCV003582717 RCV003582956 RCV003742364 RCV003839932 RCV003847048 RCV003880857 RCV000472057 RCV001853675 RCV000578466 RCV000578302 RCV000578392 RCV001860010 RCV000679976 RCV000824367 RCV000056274 RCV000056275 RCV000056276 RCV000056277 RCV001223167 RCV001206642
ELAC2-related disorder	Likely pathogenic	rs1214177178	RCV003983323
Melanoma	Likely pathogenic	rs779254943	RCV005925438
Ovarian cancer	Likely pathogenic	rs762017822, rs779483057	RCV003154754 RCV003154757
Prostate cancer, hereditary, 2	Likely pathogenic; Pathogenic	rs1014558424, rs766731755, rs387906327	RCV003992497 RCV002249935 RCV000005360
Prostate cancer, hereditary, 2, susceptibility to	Pathogenic	rs397515465	RCV004527310

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1404593372	-
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	rs76491525, rs149733287	RCV005923287 RCV005895142
Cervical cancer	Benign; Conflicting classifications of pathogenicity	rs76491525, rs149733287	RCV005923288 RCV005895144
Cholangiocarcinoma	Likely benign	rs1598197387	RCV005922871
Clear cell carcinoma of kidney	Uncertain significance	rs757575765	RCV005924001
Colon adenocarcinoma	Likely benign	rs140626107	RCV005925706
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity; Benign	rs201647277, rs149733287, rs58809197	RCV005919250 RCV005895141 RCV005896273
Intellectual disability	Conflicting classifications of pathogenicity	rs758792385	RCV005626566
Lung cancer	Conflicting classifications of pathogenicity	rs149733287, rs377291764	RCV005895148 RCV005907040
Malignant lymphoma, large B-cell, diffuse	Benign	rs58809197	RCV005896274
Malignant tumor of esophagus	Likely benign	rs72815149	RCV005903982
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs149733287	RCV005895143
Microcephaly	Uncertain significance	rs775449483	RCV001252934
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs76491525, rs200420215, rs149733287, rs72815149	RCV005923290 RCV005926454 RCV005895146 RCV005903984
Sarcoma	Benign; Conflicting classifications of pathogenicity; Likely benign	rs76491525, rs149733287, rs72815149	RCV005923289 RCV005895145 RCV005903983
Squamous cell carcinoma of the head and neck	Uncertain significance	rs1362428707	RCV005928384
Thymoma	Benign	rs76491525	RCV005923292
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs149733287	RCV005895147
Uterine carcinosarcoma	Benign	rs76491525, rs58809197	RCV005923291 RCV005896275

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Lactic	Associate	31045291
Cap Myopathy	Associate	10986046
Carcinogenesis	Associate	31045291
Carcinoma Hepatocellular	Associate	29209123
Cardiomyopathy Hypertrophic	Associate	23849775, 27769300, 31045291
Head and Neck Neoplasms	Associate	34635145
Heart Diseases	Associate	27769300
Hemorrhage	Associate	37889747
Intellectual Disability	Associate	27769300
Mitochondrial complex I deficiency	Associate	23849775, 27769300
Mitochondrial Diseases	Associate	23849775, 27769300, 31045291
Mitochondrial Encephalomyopathies	Associate	27769300
Personality Disorders	Associate	26251261
Prostate cancer familial	Associate	11254448, 15714208, 18767027, 32592348
Prostate Cancer Hereditary 7	Associate	18375959
Prostatic Hyperplasia	Associate	21627373
Prostatic Neoplasms	Associate	10986046, 11254449, 12373607, 15892892, 18375959, 18767027, 20086112, 26251261, 26501111, 31045291, 32592348
Prostatic Neoplasms	Inhibit	20086112
Thrombocytopenia	Associate	37889747

ELAC2 (elaC ribonuclease Z 2)